Varaico: Literature-Extracted Genetic Variants

Gene:ACSM2A
Variant:p.L64P

ACSM2A

87 papers

RefSeq Summary

This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, throu...

Pfam Domains

AMP-bindingaa 58–427UCSCAMP-binding enzyme
AMP-binding_Caa 477–557UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase medium chain family member 2A

HGNC Previous Symbol

ACSM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001308172.2
p.L64P
c.191T>C
Surrounding Variants
1 paper
NM_001308172.2
p.L69Q
c.206T>A
1 paper
NM_001308172.2
p.E78K
c.232G>A
1 paper
NM_001308172.2
p.W81C
c.243G>C
1 paper
NM_001308172.2
p.W81C
c.243G>T
1 paper
NM_001308172.2
p.Q92K
c.274C>A
1 paper
NM_001308172.2
p.A93T
c.277G>A
8 papers
NM_001308172.2
p.V112M
c.334G>A
1 paper
NM_001308172.2
p.P114L
c.341C>T
4 papers
NM_001308172.2
p.R115*
c.343C>T
2 papers
NM_001308172.2
p.W120*
c.359G>A
2 papers
NM_001308172.2
p.W120*
c.360G>A
1 paper
NM_001308172.2
p.G130Splc
c.389-1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."